|
rs80358259
|
|
G |
0.830 |
CausalMutation |
CLINVAR |
NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C.
|
10480349 |
1999 |
|
rs80358259
|
|
G |
0.830 |
CausalMutation |
CLINVAR |
Compared with the Npc1(-/-) mouse, this Npc1(tm(I1061T)Dso) model displays a less severe, delayed form of NPC1 disease with respect to weight loss, decreased motor coordination, Purkinje cell death, lipid storage, and premature death.
|
26019327 |
2015 |
|
rs80358259
|
|
G |
0.830 |
CausalMutation |
CLINVAR |
Niemann-Pick type C1 I1061T mutant encodes a functional protein that is selected for endoplasmic reticulum-associated degradation due to protein misfolding.
|
18216017 |
2008 |
|
rs80358259
|
|
G |
0.830 |
CausalMutation |
CLINVAR |
Cerebellar ataxia, vertical supranuclear gaze palsy, sensorineural deafness, epilepsy, dementia, and hallucinations in an adolescent male.
|
25149939 |
2014 |
|
rs80358259
|
|
G |
0.830 |
CausalMutation |
CLINVAR |
Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families.
|
16126423 |
2006 |
|
rs80358259
|
|
G |
0.830 |
CausalMutation |
CLINVAR |
Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype.
|
10521297 |
1999 |
|
rs80358259
|
|
G |
0.830 |
CausalMutation |
CLINVAR |
Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations.
|
16098014 |
2005 |
|
rs80358259
|
|
G |
0.830 |
CausalMutation |
CLINVAR |
Toward this goal, we have generated an induced pluripotent stem cell line from a subject homozygous for the most frequent NPC1 mutation (p.I1061T) and subsequently created a stable line of neural stem cells (NSCs).
|
25637190 |
2015 |
|
rs80358259
|
|
G |
0.830 |
CausalMutation |
CLINVAR |
The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes.
|
19744920 |
2010 |
|
rs80358259
|
|
G |
0.830 |
CausalMutation |
CLINVAR |
Loss of NPC1 function in a patient with a co-inherited novel insulin receptor mutation does not grossly modify the severity of the associated insulin resistance.
|
20521171 |
2010 |
|
rs120074132
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs120074134
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs120074135
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes.
|
19744920 |
2010 |
|
rs120074135
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs120074135
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
The adult form of Niemann-Pick disease type C.
|
17003072 |
2007 |
|
rs120074135
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.
|
11333381 |
2001 |
|
rs120074135
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Genome sequencing in a case of Niemann-Pick type C.
|
27900365 |
2016 |
|
rs120074135
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Normalisation of brain spectroscopy findings in Niemann-Pick disease type C patients treated with miglustat.
|
26984608 |
2016 |
|
rs120074136
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs139751448
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Niemann-Pick type C 1 function requires lumenal domain residues that mediate cholesterol-dependent NPC2 binding.
|
22065762 |
2011 |
|
rs139751448
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.
|
11333381 |
2001 |
|
rs139751448
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening.
|
26981555 |
2016 |
|
rs139751448
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database.
|
26666848 |
2015 |
|
rs139751448
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C.
|
11545687 |
2002 |
|
rs139751448
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.
|
12955717 |
2003 |